Thyrotoxic periodic paralysis (TPP) is a rare disease of muscle paralysis associated with hypokalemia and thyrotoxicosis. Hypokalemic periodic paralysis can be caused by potassium channelopathy or thyroid dysfunction. Thyrotoxic hypokalemic periodic paralysis is far more common in Asian males aged between 20 to 40 years and rare in children and adolescents. Clinical symptoms with motor paralysis were recovered just after treatment of potassium, propranolol, and methimazole. However, thyroid function tests were not normalized until 3 month treatment of methimazole and propranolol. We report a 17-year-old patient diagnosed with Graves' disease with TPP. Thyroid function test should including in periodic paralysis patient's evaluation.
Adolescent ; Aged ; Asian Continental Ancestry Group ; Channelopathies ; Child ; Graves Disease ; Humans ; Hyperthyroidism ; Hypokalemia ; Hypokalemic Periodic Paralysis ; Male ; Methimazole ; Muscles ; Paralysis ; Potassium ; Propranolol ; Rare Diseases ; Thyroid Function Tests ; Thyroid Gland ; Thyrotoxicosis

BACKGROUND AND PURPOSE: The susceptibility-weighted imaging form of brain MRI using minimum intensity projection (mIP) is useful for assessing traumatic brain injuries because it readily reveals deoxyhemoglobin or paramagnetic compounds. We investigated the efficacy of using this methodology in nontraumatic patients. METHODS: We retrospectively analyzed the asymmetric mIP findings in nontraumatic patients. Asymmetric mIP images were first verified visually and then using ImageJ software. We enrolled patients with a difference of >5% between hemispheres in ImageJ analysis. All patients underwent detailed history-taking and EEG, and asymmetric mIP findings were compared. RESULTS: The visual analysis identified 54 pediatric patients (37 males and 17 females) with asymmetric mIP findings. Ten patients were excluded because they did not meet the ImageJ verification criteria. The 44 patients with asymmetry comprised 36 with epilepsy, 6 with headache, and 2 with cerebral infarction. Thirty-one of the 36 epileptic patients showed definite partial seizure activities in semiology, while the remaining patients did not demonstrate a history of partial seizure manifestations. The MRI findings were normal in all patients except for five with periventricular leukomalacia unrelated to seizure symptoms. There was agreement between mIP images and semiology in 29 (93.5%) of the 31 epileptic patients with focal signs, while the other 2 demonstrated discordance. Twenty (64.5%) of the 31 patients showed consistent EEG abnormalities. CONCLUSIONS: Our data suggest that asymmetric mIP findings are an excellent lateralizing indicator in pediatric patients with partial epilepsy.
Brain Injuries ; Brain ; Cerebral Infarction ; Child ; Electroencephalography ; Epilepsies, Partial ; Epilepsy ; Headache ; Humans ; Infant, Newborn ; Leukomalacia, Periventricular ; Magnetic Resonance Imaging ; Male ; Retrospective Studies ; Seizures

PURPOSE: Subgaleal hemorrhage (SGH) is a rare but potentially fatal condition in newborns; however, few studies have reported on this condition. We aimed to identify the clinical characteristics and prognostic factors of SGH. METHODS: We retrospectively reviewed the medical records of 20 neonates diagnosed with SGH between January 2000 and June 2017. Enrolled neonates were clinically diagnosed when they had tender fluctuant scalp swelling that crossed the suture lines. RESULTS: Among 20 neonates with SGH, 12 were boys and 7 were girls; median hospitalization duration was 9.7±6.9 days. Fourteen neonates (70%) were born via vacuum-assisted vaginal delivery, and 4 via vacuum-assisted cesarean section. Of the neonates enrolled, half of them initially showed unstable vital signs, including apnea, desaturation, and cyanosis. Ten neonates had acidosis and 3 had asphyxia (pH < 7.0). Intracranial lesions associated with SGH were observed in 15 neonates (75%), including subdural hemorrhage (50%), subarachnoid hemorrhage (15%), intraventricular hemorrhage (5%), cerebral infarct (15%), skull fracture (30%), and cephalohematoma (20%). Twelve neonates (60%) required transfusion, 5 (25%) had seizures, and 3 (15%) died. Eight neonates (40%) had hyperbilirubinemia (mean total bilirubin, 13.1±7.4). The mean follow-up period was 8.4±7.5 months. At follow-up, 10 neonates (58.8%) were healthy with normal development, whereas 7 (41.2%) had neurological deficits. CONCLUSION: The morbidity rate was 41.2% due to severe metabolic acidosis. Anemia, hyperbilirubinemia, low Apgar scores, and subdural hemorrhage did not affect the prognosis. The long-term outcomes of neonates with SGH are generally good. Only arterial blood pH was significantly associated with death.
Acidosis ; Anemia ; Apnea ; Asphyxia ; Bilirubin ; Cesarean Section ; Cyanosis ; Female ; Follow-Up Studies ; Hematoma, Subdural ; Hemorrhage* ; Hospitalization ; Humans ; Hydrogen-Ion Concentration ; Hyperbilirubinemia ; Infant, Newborn* ; Medical Records ; Pregnancy ; Prognosis* ; Retrospective Studies ; Scalp ; Seizures ; Skull Fractures ; Subarachnoid Hemorrhage ; Sutures ; Vacuum Extraction, Obstetrical ; Vital Signs

Neurofibromatosis type 1 (NF1) is a common neurocutaneous syndrome that presents with multiple café-au-lait spots, skinfold freckling, dermatofibromas, neurofibromas, and Lisch nodules. Mutations of the NF1 gene, encoding the protein neurofibromin, have been identified as the cause of this disease. NF1 can also present with precocious puberty and be associated with optic pathway tumors. Hypothalamic hamartoma as the cause of precocious puberty in patients with NF1 has been rarely described in the literature. Here, we report the findings for a patient with NF1 and precocious puberty associated with a hypothalamic hamartoma who had a newly discovered 14-bp deletion mutation in exon 5 of NF1. To our knowledge, this is the first time this combination is reported in the literature.
Adolescent ; Child* ; Exons ; Genes, Neurofibromatosis 1 ; Hamartoma* ; Histiocytoma, Benign Fibrous ; Humans ; Hypothalamic Diseases ; Neurocutaneous Syndromes ; Neurofibroma ; Neurofibromatoses* ; Neurofibromatosis 1* ; Neurofibromin 1 ; Puberty ; Puberty, Precocious* ; Sequence Deletion

PURPOSE: To verify the efficacy and safety of lamotrigine (LTG) monotherapy in newly diagnosed children with epilepsy. METHODS: We prospectively enrolled 148 children who had undergone LTG monotherapy at our institution between September 2002 and June 2009. Twenty-nine patients were excluded: 19 due to incomplete data and 10 were lost to follow up. The data of the remaining 119 patients was analyzed. RESULTS: We enrolled 119 pediatric epilepsy patients (aged 2.8-19.3 years; 66 males and 53 females) in this study. Out of 119 patients, 29 (25.2%) had generalized epilepsy and 90 (74.8%) had partial epilepsy. The responses of seizure reduction were as follows: Seizure freedom (no seizure attack for at least 6 months) in 87/111 (78.4%, n=111) patients; partial response (reduced seizure frequency compared to baseline) in 13 (11.7%) patients; and persistent seizure in 11 (9.9%) patients. The seizure freedom rate was in 81.6% in patients with partial seizure (75.9% for complex partial seizure and 90.9% for benign rolandic epilepsy) and 44.8% in patients with generalized epilepsy (30.0% for absence seizure, 35.7% for juvenile myoclonic epilepsy patients, and 100.0% for idiopathic generalized epilepsy patients). Adverse reactions were reported in 17 (14.3%) patients, and 8 patients (6.7%) discontinued LTG because of rash and tic. No patient experienced severe adverse reaction such as Stevens-Johnson syndrome. CONCLUSION: LTG showed excellent therapeutic response and had few significant adverse effects. Our findings report may contribute in promoting the use of LTG monotherapy in epileptic children.
Child ; Epilepsies, Partial ; Epilepsy ; Epilepsy, Absence ; Epilepsy, Generalized ; Exanthema ; Freedom ; Humans ; Lost to Follow-Up ; Male ; Myoclonic Epilepsy, Juvenile ; Prospective Studies ; Seizures ; Stevens-Johnson Syndrome ; Tics ; Triazines

PURPOSE: Status epilepticus(SE) is one of the most common neurologic emergencies in children, which might result in significant morbidity and mortality. The aim of this study was to evaluate the changes of etiology and prognosis, clinical outcomes in children with status epilepticus during the period between the 1990s and 2000s at a single institution. METHODS: We retrospectively reviewed and analyzed the records of two groups (group A and B) of children with SE at the Department of Pediatrics of our institution. Group A consisted of 98 children aged between 2 months and 15 years and admitted from January, 1992 to December, 1998. Group B consisted of 79 children at the same age and admitted from November, 2008 to July, 2011. We compared age distribution, etiology, duration, abnormality of EEG and Brain CT/MRI, and neurologic complications between the two groups. RESULTS: Compared with group A, the mortality rate of SE in group B improved from 7.1% to 1.3%. Neurological complication rates also improved from 21.4% (group A) to 18.3% (group B). Duration of SE decreased from 71.4+/-82.6 minutes (group A) to 42.0+/-53.8 minutes (group B). Etiologies of SE between two periods were not significantly different, but the duration of SE decreased, and mortality and neurologic outcomes improved (P<0.001). The duration of SE was significantly correlated with neurologic complications (R2=0.214, P<0.001). CONCLUSION: This study showed decreased mortality and neurologic complication rates in SE over the last decade. The Decrease of mortality and neurologic complication rates may be due to the decreased duration of SE and more immediate visit of patients to the hospital than in the past.
Age Distribution ; Brain ; Child* ; Electroencephalography ; Emergencies ; Humans ; Mortality ; Pediatrics ; Prognosis ; Retrospective Studies ; Status Epilepticus*

PURPOSE: Encephalitis is a cranial nervous system infection that is caused by various etiologies. Most of the patients with encephalitis undergo severe or fatal clinical course with sequelae. This study was conducted to estimate the clinical outcomes and to evaluate factors which can be used to predict clinical outcomes among pediatric patients with encephalitis METHODS: We retrospectively reviewed 46 patients with encephalitis who were admitted to the Department of Pediatrics of Chonbuk National University Hospital, from July 1995 to July 2003. Encephalitis was diagnosed based on the presence of neurologic abnormalities, CSF, Brain CT or MRI findings. Information on sequelae was obtained in the outpatient clinic. RESULTS: In this study, five patients(11.6%) were expired, 17 patients(39.5%) developed neurologic sequelaes and 21 patients(46.5%) were recovered without sequelae. Infants had poorer outcomes compared to older age groups. Twenty nine cases who had seizures showed high morbidity rate(48.3%) compared to the seizure-free group(17.6%). Among six patients with status epilepticus, four(66.7%) developed neurologic sequelae and two(33.3%) expired. The group with normal brain MRI findings had better outcomes (70%) than the group with abnormal MRI findings(55.5%). Gray matter involved patients on MRI had poorer recovery rate(33.3%) than white matter involved patients(69.2%). The group treated with intravenous immunoglobulin(IVIG) had better outcomes(64.7%) than the other group(37.9%). CONCLUSION: The presence of seizure, younger patients, and presence of abnormal findings of brain MRI, especially gray matter lesions were associated with poor clinical outcomes in children with encephalitis.
Ambulatory Care Facilities ; Brain ; Child ; Encephalitis ; Encephalitis, Viral* ; Humans ; Infant ; Jeollabuk-do ; Magnetic Resonance Imaging ; Nervous System ; Pediatrics ; Retrospective Studies ; Seizures ; Status Epilepticus

The term 'rhombencephalitis' refers to inflammatory diseases affecting the hindbrain. We experienced a case of rhombencephalitis in a 14 years old girl, who presented with fever, headache, and intractable hiccup for one week prior to admission. Brain MRI on admission showed bilateral high signal intensities in the dorsal portion of the medulla oblongata on T2WI and FLAIR. Examination of cerebrospinal fluid showed increased WBC count (33/mm3, Lymphocyte 81%), normal protein and glucose level. Immunoserologic study showed decreased C3, C4 level and increased Anti-ds DNA level. However, FANA was negative. The hiccup was controlled by administration of IVIG (1 g/kg/day for 2 days) and steroid (30 mg/kg/day for 3days) without any neurologic symptoms. We report a case with the brief review of related literatures.
Brain ; DNA ; Encephalitis ; Fever ; Glucose ; Headache ; Hiccup ; Immunoglobulins, Intravenous ; Lymphocytes ; Medulla Oblongata ; Neurologic Manifestations ; Rhombencephalon

Osteopetrosis or albers-Schonberg disease is extremely rare disease. It is characterized by osteoporosis, stunted growth, deformity, increased likelihood of fractures, also patients suffers anemia, recurrent infections and hepatosplenomegaly. However, we recently came upon a 14-month-old female as the 1st child of osteopetrosis with hydrocephalus and rickets. She has the typical symptoms such as nystagmus, osteosclerosis -especially in skull. Brain Magnetic Resonance Imaging (MRI), MRI shows hydrocephalus and x-ray finding are consistent with rickets. This is the first report of osteopetrosis with hydrocephalus and rickets in Korea by pediatrician.
Anemia ; Brain ; Child ; Congenital Abnormalities ; Female ; Humans ; Hydrocephalus* ; Infant ; Korea ; Magnetic Resonance Imaging ; Osteopetrosis* ; Osteoporosis ; Osteosclerosis ; Rare Diseases ; Rickets* ; Skull

PURPOSE: The aims of this study were to verify the incidence of hypohidrosis and to determine the predictive value of noninvasive indicator test (Neurocheck(TM)) for sweating after administration of topiramate in newly diagnosed pediatric epileptic patients. METHODS: A total of 46 epileptic patients (22 boys; 24 girls) on topiramate treatment were evaluated in this study at the Department of Pediatrics, Chonbuk National University Hospital, from October 2004 to July 2005. We measured sweating functions using a noninvasive sweating test (Neurocheck(TM)) before topiramate medication, and after 3 months when topiramate reached its target dosage. We performed a direct questionnaire survey for the hypohidrosis related symptoms during topiramate treatment. RESULTS: The mean age was 7.8+/-3.2 year. The mean dosage of topiramate was 4.5+/-0.8 mg/kg/day. Among the patients, there were 40 complex partial seizures, one simple partial seizure, two partial seizures with secondarily generalization, two generalized seizures, and one Lennox-Gastaut syndrome case. Of the 46 epileptic patients, 17 patients (37.0 percent) experienced hypohidrosis and hypohidrosis related symptoms, 12 (26.1 percent) had facial flushing, four (8.7 percent) had heat intolerance, one (2.2 percent) had lethargy, but no one had anhidrosis. Among the 17 patients, the mild group numbered 12 and the severe group totalled five. Hypohidrosis by Neurocheck(TM) was diagnosed in 16 patients. The overall measures of agreement between Neurocheck(TM) and the survey was 76.5 percent. The specificity of this test was 89.7 percent. Patients who showed a time delay after medication, especially over 3 minutes, were seen only in the severe group. CONCLUSION: Neurocheck(TM) could be clinically useful to detect and predict topiramate induced hypohidrosis in pediatric epileptic patients. We recommend that patients who show a delay over 3 minutes in Neurocheck(TM) test after topiramate initiation should be monitored for hypohydrosis.
Cobalt* ; Flushing ; Generalization (Psychology) ; Hot Temperature ; Humans ; Hypohidrosis* ; Incidence ; Jeollabuk-do ; Lethargy ; Pediatrics ; Surveys and Questionnaires ; Seizures ; Sensitivity and Specificity ; Sweat ; Sweating